An $851,910 project with funding from the Walther Cancer Foundation, TMF, SJRMC, Beacon and the Harper Institute will enable the acquisition of a Sequenom MassARRAY instrument for clinical testing, translational research and biobanking. The Sequenom device will be used by local oncologists at SJRMC and BHSMH and pathologists at TMF, in collaboration with Harper Institute researchers, to offer mutational profiling to cancer patients.

Molecular profiling technologies provide pathologists with a valuable tool with which to complement existing diagnostic approaches. Tumor cells contain one or more mutations that distinguish them from normal cells. These mutations induce the cells to grow uncontrollably and avoid death signals, evade the immune system and migrate to other parts of the body. Tumors with identical pathology can have very different mutational profiles.

Mutational profiling can provide valuable information regarding potential drug treatments that may benefit an individual patient, enabling a clinical team to personalize cancer therapy. The profiling enables clinicians to identify targeted therapies that often spare patients the extreme toxicity associated with treatments that may not ever kill their particular tumor.

During the first two years of the cooperative effort, molecular profiling will be available to all new cases of lung cancer, colon cancer and metastatic melanoma diagnosed in patients at SJRMC and BHSMH, which includes Elkhart General Hospital and Memorial Hospital. Lung cancer is the leading cause of cancer death in Indiana, while colon cancer is the third most diagnosed cancer in the state. More deaths result from melanoma in Indiana than any other type of skin cancer. Also, a 2012 study revealed that cancer rates in Northern Indiana, particularly St. Joseph County, were significantly higher than the state average.

Mutational profiling is currently available mainly at academic medical centers and can cost thousands of dollars, placing it out of reach of patients with no health insurance and even for many individuals with coverage because it is often not reimbursed. However, data from the National Cancer Institute indicate that 80 percent of U.S. cancer patients are diagnosed and treated in community hospitals, while only 20 percent receive care in academic medical centers.

In an unprecedented display of community cooperation and collaboration, TMF has agreed to offer mutational profiling while charging only direct costs, greatly reducing the cost per test, and both SJRMC and BHSMH have pledged $50,000 per year for a two-year period to create a fund to help defray the remaining direct costs. As a result, cutting-edge mutational profiling will be a free option for SJRMC and BHSMH cancer patients.

“I’d like to thank the leadership at TMF, SJRMC and Beacon for not just agreeing to help, but being an engaged partner in this project’s development,” S. Andrew Bullock, associate director of the Harper Research Institute, said.

“This is a project that would not have been possible without the support of the Walther Cancer Foundation. They once again demonstrated why they continue to be one of the leading forces fighting cancer in our state.”

In addition to mutational profiling for clinical diagnostics, the Sequenom MassARRAY offers tremendous potential for enhancing translational research occurring at Harper. The system is an open platform, which provides researchers with the opportunity to add a test for a new mutation to an existing platform at a relatively low cost. As soon as genetic markers for cancer are discovered in basic research labs at HCRI, assays for these markers can be added to existing panels in use by SBMF, giving researchers the opportunity to study these markers in human tissue in a matter of days.

In addition to clinical testing and research projects, the Sequenom device will be used for sample quality control for the HCRI Tissue Biorepository, a human tissue biobank supported, in part, by the Walther Cancer Foundation.